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C J Sheeba, M P O Logan
Members of the T-box gene family have diverse roles during embryogenesis and many play critical roles in the developing limb. This is exemplified by the fact that, in humans, mutations in T-box genes are associated with several congenital syndromes that include limb defects as part of their characteristic spectrum of abnormalities. T-box genes encode for evolutionary conserved transcription factors that include both transcriptional activators and repressors. The hallmark of T-box gene members is the presence of the eponymous DNA-binding T-box domain...
2017: Current Topics in Developmental Biology
G O Pflugfelder, F Eichinger, J Shen
T-box genes are essential for limb development in vertebrates and arthropods. The Drosophila genome encodes eight T-box genes, six of which are expressed in limb ontogenesis. The Tbx20-related gene pair midline and H15 is essential for dorso-ventral patterning of the Drosophila legs. The three Tbx6-related Dorsocross genes are required for epithelial remodeling during wing development. The Drosophila gene optomotor-blind (omb) is the only member of the Tbx2 subfamily in the fly and is predominantly involved in wing development...
2017: Current Topics in Developmental Biology
Kazuki Takeda, Ikuyo Kou, Noriaki Kawakami, Aritoshi Iida, Masahiro Nakajima, Yoji Ogura, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Yukuto Yasuhiko, Hideki Sudo, Toshiaki Kotani, Masaya Nakamura, Morio Matsumoto, Kota Watanabe, Shiro Ikegawa
Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated the TBX6 locus for both mutations and the risk haplotype, examined transcriptional activities of mutant TBX6 in vitro, and evaluated clinical and radiographic features...
March 2017: Human Mutation
M Lefebvre, Y Duffourd, T Jouan, C Poe, N Jean-Marçais, A Verloes, J St-Onge, J-B Riviere, F Petit, G Pierquin, B Demeer, P Callier, C Thauvin-Robinet, L Faivre, J Thevenon
Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6...
November 8, 2016: Clinical Genetics
Erin M Hagen, Robert J Sicko, Denise M Kay, Shannon L Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H Doleman, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Gary M Shaw, Laura L Jelliffe-Pawlowski, James L Mills
Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotype 69 infants (cases) with classic heterotaxy identified from California live births from 1998 to 2009. CNVs were identified using the PennCNV software. We identified 56 rare CNVs encompassing genes in the NODAL (NIPBL, TBX6), BMP (PPP4C), and WNT (FZD3) signaling pathways, not previously linked to classic heterotaxy...
December 2016: Human Genetics
Weisheng Chen, Jiaqi Liu, Dongtang Yuan, Yuzhi Zuo, Zhenlei Liu, Sen Liu, Qiankun Zhu, Guixing Qiu, Shishu Huang, Philip F Giampietro, Feng Zhang, Nan Wu, Zhihong Wu
Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX6 gene plays an important role...
August 30, 2016: Oncotarget
Hisato Kondoh, Shinji Takada, Tatsuya Takemoto
The transcription factor gene Sox2, centrally involved in neural primordial regulation, is activated by many enhancers. During the early stages of embryonic development, Sox2 is regulated by the enhancers N2 and N1 in the anterior neural plate (ANP) and posterior neural plate (PNP), respectively. This differential use of the enhancers reflects distinct regulatory mechanisms underlying the genesis of ANP and PNP. The ANP develops directly from the epiblast, triggered by nodal signal inhibition, and via the combined action of TFs SOX2, OTX2, POU3F1, and ZIC2, which promotes the the ANP development and inhibits other cell lineages...
June 2016: Development, Growth & Differentiation
Kohei Yamamizu, Alexei A Sharov, Yulan Piao, Misa Amano, Hong Yu, Akira Nishiyama, Dawood B Dudekula, David Schlessinger, Minoru S H Ko
Mouse embryonic stem cells (ESCs) can differentiate into a wide range - and possibly all cell types in vitro, and thus provide an ideal platform to study systematically the action of transcription factors (TFs) in cell differentiation. Previously, we have generated and analyzed 137 TF-inducible mouse ESC lines. As an extension of this "NIA Mouse ESC Bank," we generated and characterized 48 additional mouse ESC lines, in which single TFs in each line could be induced in a doxycycline-controllable manner. Together, with the previous ESC lines, the bank now comprises 185 TF-manipulable ESC lines (>10% of all mouse TFs)...
2016: Scientific Reports
Smita Sudheer, Jinhua Liu, Matthias Marks, Frederic Koch, Anna Anurin, Manuela Scholze, Anna Dorothea Senft, Lars Wittler, Karol Macura, Phillip Grote, Bernhard G Herrmann
Presomitic mesoderm (PSM) cells are the precursors of the somites, which flank both sides of the neural tube and give rise to the musculo-skeletal system shaping the vertebrate body. WNT and FGF signaling control the formation of both the PSM and the somites and show a graded distribution with highest levels in the posterior PSM. We have used reporters for the mesoderm/PSM control genes T, Tbx6, and Msgn1 to investigate the differentiation of mouse ESCs from the naïve state via EpiSCs to PSM cells. Here we show that the activation of WNT signaling by CHIR99021 (CH) in combination with FGF ligand induces embryo-like PSM at high efficiency...
July 2016: Stem Cells
Noortje Ijssennagger, Aafke W F Janssen, Alexandra Milona, José M Ramos Pittol, Danielle A A Hollman, Michal Mokry, Bark Betzel, Frits J Berends, Ignace M Janssen, Saskia W C van Mil, Sander Kersten
BACKGROUND & AIMS: The bile acid-activated farnesoid X receptor (FXR) is a nuclear receptor regulating bile acid, glucose and cholesterol homeostasis. Obeticholic acid (OCA), a promising drug for the treatment of non-alcoholic steatohepatitis (NASH) and type 2 diabetes, activates FXR. Mouse studies demonstrated that FXR activation by OCA alters hepatic expression of many genes. However, no data are available on the effects of OCA in the human liver. Here we generated gene expression profiles in human precision cut liver slices (hPCLS) after treatment with OCA...
May 2016: Journal of Hepatology
D E J Waschk, A-C Tewes, T Römer, J Hucke, K Kapczuk, C Schippert, P Hillemanns, P Wieacker, S Ledig
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a well-known malformation pattern of the Müllerian ducts (MDs) characterized by congenital absence of the uterus and vagina. To date, most cases remain unexplained at molecular level. As female Wnt9b-/- mice show a MRKHS-like phenotype, WNT9B has emerged as a promising candidate gene for this disease. We performed retrospective sequence analyses of WNT9B in 226 female patients with disorders of the MDs, including 109 patients with MRKHS, as well as in 135 controls...
May 2016: Clinical Genetics
Thomas J Cunningham, Thomas Brade, Lisa L Sandell, Mark Lewandoski, Paul A Trainor, Alexandre Colas, Mark Mercola, Gregg Duester
Bipotent axial stem cells residing in the caudal epiblast during late gastrulation generate neuroectodermal and presomitic mesodermal progeny that coordinate somitogenesis with neural tube formation, but the mechanism that controls these two fates is not fully understood. Retinoic acid (RA) restricts the anterior extent of caudal fibroblast growth factor 8 (Fgf8) expression in both mesoderm and neural plate to control somitogenesis and neurogenesis, however it remains unclear where RA acts to control the spatial expression of caudal Fgf8...
2015: PloS One
Ender Karaca, Ozge O Yuregir, Sevcan T Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep C Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M Atik, Serkan Erdin, Donna Muzny, Richard A Gibbs, James R Lupski
Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways...
November 2015: American Journal of Medical Genetics. Part A
Koichiro Abe, Nobuhiko Takamatsu, Kumiko Ishikawa, Toshiko Tsurumi, Sho Tanimoto, Yukina Sakurai, Thomas S Lisse, Kenji Imai, Tadao Serikawa, Tomoji Mashimo
No abstract text is available yet for this article.
2015: PloS One
Erin E Baschal, Kandice Swindle, Cristina M Justice, Robin M Baschal, Anoja Perera, Cambria I Wethey, Alex Poole, Olivier Pourquié, Olivier Tassy, Nancy H Miller
STUDY DESIGN: A hypothesis-driven study was conducted in a familial cohort to determine the potential association between variants within the TBX6 gene and Familial Idiopathic Scoliosis (FIS). OBJECTIVE: To determine if variants within exons of the TBX6 gene segregate with the FIS phenotype within a sample of families with FIS. SUMMARY OF BACKGROUND DATA: Idiopathic Scoliosis (IS) is a structural curvature of the spine whose underlying genetic etiology has not been established...
July 2015: Spine Deformity
Koichiro Abe, Nobuhiko Takamatsu, Kumiko Ishikawa, Toshiko Tsurumi, Sho Tanimoto, Yukina Sakurai, Thomas S Lisse, Thomas Lisse, Kenji Imai, Tadao Serikawa, Tomoji Mashimo
Congenital vertebral malformations caused by embryonic segmentation defects are relatively common in humans and domestic animals. Although reverse genetics approaches in mice have provided information on the molecular mechanisms of embryonic somite segmentation, hypothesis-driven approaches cannot adequately reflect human dysmorphology within the population. In a N-ethyl-N-nitrosourea (ENU) mutagenesis project in Kyoto, the Oune mutant rat strain was isolated due to a short and kinked caudal vertebra phenotype...
2015: PloS One
Ann-Christin Tewes, Kristin Katharina Rall, Thomas Römer, Jürgen Hucke, Karina Kapczuk, Sara Brucker, Peter Wieacker, Susanne Ledig
OBJECTIVE: To identify genetic causes of malformations of the müllerian ducts. DESIGN: Retrospective laboratory study. SETTING: University hospital. PATIENT(S): A total of 167 patients with disorders of the müllerian ducts: 116 patients with Mayer-Rokitansky-Küster-Hauser syndrome and 51 patients with fusion disorders of the müllerian ducts. The control group was composed of 94 fertile women with at least one child...
May 2015: Fertility and Sterility
Stefanie E Windner, Rosemarie A Doris, Chantal M Ferguson, Andrew C Nelson, Guillaume Valentin, Haihan Tan, Andrew C Oates, Fiona C Wardle, Stephen H Devoto
During embryonic development, the paraxial mesoderm becomes segmented into somites, within which proliferative muscle progenitors and muscle fibers establish the skeletal musculature. Here, we demonstrate that a gene network previously implicated in somite boundary formation, involving the transcriptional regulators Tbx6, Mesp-b and Ripply1, also confers spatial and temporal regulation to skeletal myogenesis in zebrafish. We show that Tbx6 directly regulates mesp-b and ripply1 expression in vivo, and that the interactions within the regulatory network are largely conserved among vertebrates...
March 15, 2015: Development
Cali E Willet, Mariano Makara, George Reppas, George Tsoukalas, Richard Malik, Bianca Haase, Claire M Wade
Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth...
2015: PloS One
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie, Z S Gucev, S Liu, N Yang, H Al-Kateb, J Chen, J Zhang, N Hauser, T Zhang, V Tasic, P Liu, X Su, X Pan, C Liu, L Wang, J Shen, J Shen, Y Chen, T Zhang, J Zhang, K W Choy, J Wang, Q Wang, S Li, W Zhou, J Guo, Y Wang, C Zhang, Hong Zhao, Yu An, Yu Zhao, J Wang, Z Liu, Y Zuo, Y Tian, X Weng, V R Sutton, H Wang, Y Ming, S Kulkarni, T P Zhong, P F Giampietro, S L Dunwoodie, S W Cheung, X Zhang, L Jin, J R Lupski, G Qiu, F Zhang
BACKGROUND: Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS: We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multicenter series of 42 persons with 16p11...
January 22, 2015: New England Journal of Medicine
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